Cell type specific genetic regulation of gene expression across human tissues
Stephane E. Castel,
Andrew R Hamel,
Amy L Roberts,
Alvaro N Barbeira,
José Manuel Soria,
Gad A. Getz,
Emmanouil T Dermitzakis,
Kerrin S. Small,
Hualin S Xi,
Hae Kyung Im,
Posted 16 Oct 2019
bioRxiv DOI: 10.1101/806117 (published DOI: 10.1126/science.aaz8528)
Posted 16 Oct 2019
The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci ( cis -QTLs) for the majority of genes across a wide range of human tissues. However, the interpretation of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. Here, we map interactions between computational estimates of cell type abundance and genotype to identify cell type interaction QTLs for seven cell types and show that cell type interaction eQTLs provide finer resolution to tissue specificity than bulk tissue cis -eQTLs. Analyses of genetic associations to 87 complex traits show a contribution from cell type interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue. One Sentence Summary Estimated cell type abundances from bulk RNA-seq across tissues reveal the cellular specificity of quantitative trait loci.
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